Canonical Allele Identifier: CA8706541
Gene: SMARCD2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1472734
ClinVar RCV Id: RCV001977208
dbSNP Id: rs766896361

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63837600C>T , CM000679.2:g.63837600C>T GRCh38
NC_000017.10:g.61914960C>T , CM000679.1:g.61914960C>T GRCh37
NC_000017.9:g.59268692C>T NCBI36
NG_053004.1:g.10392G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000697953.1:n.130G>A
ENST00000698016.1:c.101G>A ENSP00000513502.1:p.Arg34Gln
ENST00000698022.1:c.59G>A ENSP00000513504.1:p.Arg20Gln
ENST00000698027.1:c.101G>A ENSP00000513505.1:p.Arg34Gln
ENST00000448276.7:c.242G>A MANE Select ENSP00000392617.2:p.Arg81Gln
ENST00000225742.13:c.17G>A ENSP00000225742.9:p.Arg6Gln
ENST00000323347.14:c.98G>A ENSP00000318451.10:p.Arg33Gln
ENST00000448276.6:c.242G>A ENSP00000392617.2:p.Arg81Gln
ENST00000577686.1:n.53-363G>A
ENST00000580054.1:c.26G>A ENSP00000463793.1:p.Arg9Gln
ENST00000584400.5:c.217-363G>A ENSP00000464503.1:n.217-363G>A
ENST00000613943.4:c.131G>A ENSP00000483605.1:p.Arg44Gln
NM_001098426.1:c.242G>A NP_001091896.1:p.Arg81Gln
XM_005257604.2:c.17G>A XP_005257661.2:p.Arg6Gln
NM_001330439.1:c.17G>A NP_001317368.1:p.Arg6Gln
NM_001330440.1:c.98G>A NP_001317369.1:p.Arg33Gln
NM_001098426.2:c.242G>A MANE Select NP_001091896.1:p.Arg81Gln
NM_001330440.2:c.98G>A NP_001317369.1:p.Arg33Gln